AHI1 (Abelson helper integration site 1)

2012-12-01 Affiliation

Identity

HGNC

AHI1

LOCATION

6q23.3

LOCUSID

54806

ALIAS

AHI-1,JBTS3,ORF1,dJ71N10.1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 54806
MIM: 608894
HGNC: 21575
Ensembl: ENSG00000135541

Variants:

dbSNP: 54806
ClinVar: 54806
TCGA: ENSG00000135541
COSMIC: AHI1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000135541	ENST00000265602	Q8N157
ENSG00000135541	ENST00000327035	Q8N157
ENSG00000135541	ENST00000367799	H0Y343
ENSG00000135541	ENST00000367800	Q8N157
ENSG00000135541	ENST00000457866	Q8N157
ENSG00000135541	ENST00000475846	H0YEF1
ENSG00000135541	ENST00000488690	Q9NQN3
ENSG00000135541	ENST00000524469	E9PML3
ENSG00000135541	ENST00000527681	H0YDL1
ENSG00000135541	ENST00000528103	E9PI51
ENSG00000135541	ENST00000529865	H0YE01
ENSG00000135541	ENST00000531788	Q8N157
ENSG00000135541	ENST00000534469	E9PI51

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
15322546	2004	Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.	131
15467982	2004	Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.	103
17409309	2007	High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.	70
17409309	2007	High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.	70
17668382	2007	Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.	68
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
21068128	2011	Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.	60
16453322	2006	AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.	53
20683928	2010	Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.	47
16155189	2006	AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.	41

Citation

Dessen P

AHI1 (Abelson helper integration site 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53090/ahi1